{
    "disease_id": "DOID:0112180",
    "recommended_name": {
        "id": "DOID:0112180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112180",
        "name": "urocanase deficiency",
        "description": "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "UROCD",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "encephalopathy due to urocanase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "high urine urocanic acid levels",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "urocanate hydratase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "urocanic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanic aciduria",
            "description": "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date."
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "encephalopathy due to urocanase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanic aciduria (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "UROCD",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanase deficiency",
            "description": ""
        },
        {
            "id": "MIM:276880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276880",
            "name": "Urocanase deficiency",
            "description": "Urocanase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112180"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112180",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "categories": []
        },
        {
            "id": "MONDO:0010167",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "categories": []
        },
        {
            "id": "MIM:276880",
            "database": "MIM",
            "url": "https://www.omim.org/entry/276880",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VC12-1",
            "uniprot_ac": "Q8VC12",
            "uniprot_id": "HUTU_MOUSE",
            "refseq_ac": "NP_659189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urocanate hydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.49",
                    "type": "synonym"
                },
                {
                    "name": "Imidazolonepropionate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Urocanase",
                    "type": "synonym"
                },
                {
                    "name": "imidazolonepropionate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "urocanate hydratase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "urocanate hydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uroc1",
                    "type": "recommended"
                },
                {
                    "name": "Uroc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VC12-1",
            "evidence": [
                {
                    "id": "0112180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96N76-1",
            "uniprot_ac": "Q96N76",
            "uniprot_id": "HUTU_HUMAN",
            "refseq_ac": "NP_001159446",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urocanate hydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.49",
                    "type": "synonym"
                },
                {
                    "name": "Imidazolonepropionate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Urocanase",
                    "type": "synonym"
                },
                {
                    "name": "imidazolonepropionate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "urocanase 1",
                    "type": "synonym"
                },
                {
                    "name": "urocanase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "urocanate hydratase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UROC1",
                    "type": "recommended"
                },
                {
                    "name": "HMFN0320",
                    "type": "synonym"
                },
                {
                    "name": "UROC1",
                    "type": "synonym"
                },
                {
                    "name": "UROCD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96N76-1",
            "evidence": [
                {
                    "id": "276880",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276880"
                },
                {
                    "id": "0112180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIC2-1",
            "uniprot_ac": "D3ZIC2",
            "uniprot_id": "D3ZIC2_RAT",
            "refseq_ac": "NP_001418812",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urocanate hydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.49",
                    "type": "synonym"
                },
                {
                    "name": "Imidazolonepropionate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "urocanase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "urocanate hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "urocanate hydratase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uroc1",
                    "type": "recommended"
                },
                {
                    "name": "Uroc1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIC2-1",
            "evidence": [
                {
                    "id": "0112180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112180"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112180"
}